Gene Variant Detail

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Gene FGFR1
Variant C178S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 C178S lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). C178S results in stabilization of the Fgfr1 dimer state in an in vitro assay (PMID: 27596331), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 C178S

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Transcript NM_023110.3
gDNA chr8:g.38428010A>T
cDNA c.532T>A
Protein p.C178S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013222.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716304 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_001174063 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013222 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716303 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_017013221 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_023110 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428010A>T c.532T>A p.C178S RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References